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Porphyria

Porphyria

Porphyria is a term used to describe a variety of enzyme disorders that lead to a buildup of porphyin in your body. Porphyrins link hemoglobin to your red blood cells, which bind iron and transport oxygen to your various tissues. Porphyria is typically inherited from one or both parents, although environmental factors can also be a factor in some types of porphyria. The condition most often affects the skin or nervous system, although other organs can also be affected. If you have signs of porphyria, contact us to schedule a consultation with Dr. Tabib today.

Porphyria Symptoms

There are two types of porphyria, acute and cutaneous. Acute varieties affect the nervous system, while cutaneous porphyrias affect the skin. Some varieties affect both, while others affect one more than the other.

Acute porphyria is rare before puberty and after menopause. Common symptoms include:

  • Severe Abdominal Pain
  • Abdominal Swelling
  • Chest, Leg, or Back Pain
  • Constipation
  • Diarrhea
  • Vomiting
  • Insomnia
  • Palpitations
  • High Blood Pressure
  • Anxiety
  • Seizures
  • Confusion, Hallucinations, or Paranoia
  • Trouble Breathing
  • Muscle Pain, Tingling, Numbness, or Weakness
  • Red or Brown Urine

These symptoms can last between one and two weeks and usually improve slowly.
Cutaneous porphyriasmay cause symptoms starting in infancy. The symptoms usually last for several days and include:

  • Sensitivity to Sun or Artificial Light
  • Skin Redness and Swelling
  • Blisters that Take Weeks to Heal
  • Itching
  • Increased Hair Growth
  • Red or Brown Urine

Certain symptoms, including light sensitivity, severe abdominal pain, and discolored urine, should prompt an immediate doctor visit.

Causes of Porphyria

In addition to hereditary factors, porphyria may be triggered by certain environmental factors. These can include barbiturates, tranquilizers, birth control pills, sedatives, chemicals, fasting, smoking, drinking alcohol, emotion or physical stress, infections, menstrual hormones, and sun exposure. However, many people who inherit the genetic defect associated with the condition never develop symptoms and require no treatment.

Diagnosis

Diagnosing porphyria can be difficult. It is a rare condition, and its symptoms are often shared with other diseases. Dr. Tabib can test for the presence of porphyria using laboratory tests. These may include the use of blood samples, urine samples, or stool samples. Genetic testing may be recommended for your family members if you are diagnosed with porphyria.

Treating Porphyria Los Angeles

Porphyria treatments are about controlling symptoms and vary depending on whether your condition is acute or cutaneous. However, minimizing exposure to potential triggers is recommended in both cases. That may include stopping medications that trigger symptoms or avoiding exposure to sunlight. In patients with cutaneous porphyria who need to avoid the sun, vitamin D supplements may be recommended to compensate.

Other treatments for cutaneous porphyria include the drawing of blood to reduce excess hemoglobin, the use of malaria drugs to absorb porphyrins, and prescription beta carotene, which can boost your skin’s tolerance to sunlight.

Patients with acute porphyria often benefit from medications that control pain, nausea, and vomiting. Intravenous sugar may be essential to maintain adequate carbohydrate levels, as well as intravenous fluids to maintain hydration. Some patients also benefit from injections of hemin, a substance that limits the body’s production of porphyrin.

For the latest porphyria treatments in use today, contact us to schedule a consultation with Dr. Tabib.

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Siamak Tabib, M.D., Inc.
8631 West Third Street
Suite 1015E
Los Angeles, CA 90048
(310) 652-4472
(310) 358-2266 (Fax)